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Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome

Unusual clinical course

Keon Young Park, Kara G. Gill, Jonathan Emerson Kohler

USA Division of Pediatric Surgery, Department of Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

Am J Case Rep 2019; 20:1057-1062

DOI: 10.12659/AJCR.917245

Available online:

Published: 2019-07-20

BACKGROUND: Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders with heterogeneous clinical features associated with varying genetic mutations. EDS type IV, also known as vascular EDS (vEDS), is the rarest type but has fatal complications, including rupture of major vasculature and intestinal and uterine perforation. Intestinal perforation can be spontaneous or a consequence of long-standing constipation, a common symptom among patients with EDS.
CASE REPORT: We present a case of a 6-year-old boy with the previous diagnosis of vEDS who presented with colonic perforation from a stercoral ulcer. He underwent diagnostic laparoscopy and loop colostomy, with an uneventful postoperative course. Unfortunately, he developed a second colonic perforation 14 months after the initial episode and underwent total abdominal colectomy with end ileostomy.
CONCLUSIONS: Intestinal perforation is a well-documented and devastating complication of vEDS. However, spontaneous intestinal perforation is extremely rare in a young child. Therefore, the diagnosis of vEDS should be included in the differential diagnosis if a child presents with intestinal perforation. There is no clear guideline available for surgical management of colonic perforation in patients with vEDS, but total abdominal colectomy appears to provide the best chance of preventing recurrent perforation.

Keywords: Constipation, Ehlers-Danlos Syndrome, Intestinal Perforation